Q28* (p.Gln28Ter) variant of NF1 (Neurofibromin)
Q28* (p.Gln28Ter) in NF1 (Neurofibromin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
Q28* (p.Gln28Ter) variant details
- p.Gln28Ter
- rs771764281
- ClinGen CA398988142
- cosmic curated COSV62194
- ClinVar RCV000492657
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.309
- AlphaMissense 0.11
- MetaLR 0.03
- MetaSVM -1.09
- PolyPhen-2 0.39
- SIFT 0.29
- EVE 0.21
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)